R49C (p.Arg49Cys) variant of DMD (Dystrophin)
R49C (p.Arg49Cys) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R49C (p.Arg49Cys) variant details
- p.Arg49Cys
- rs147548697
- ClinGen CA10380250
- cosmic curated COSV55910
- ClinVar RCV000214960
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.63
- MetaLR 0.76
- MetaSVM 0.43
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)
- Cited in: Dystrophinopathies. (PMID 20301298)